Genetics (Medicine) papers
Pofolia’s corpus holds 92 papers from Genetics (Medicine) (2005–2026), each with a short summary. Below, the 20 most-cited, then the most recently added.
At a glance
- Most cited: Radiotherapy plus Concomitant and Adjuvant Temozolomide for Glioblastoma (2005, 21,799 citations).
- The 20 papers listed have 78,698 citations between them.
- 19 of the 20 with a known journal quartile appeared in a Q1 journal.
- 19 have a free full text (open access).
- Most frequent journals: New England Journal of Medicine, Neuro-Oncology, JAMA.
- Published between 2005 and 2021.
Most cited
Ranked by citation count. Because citations accumulate over time, this list naturally leans towards work published a few years ago; for where the field is now, see “recently added”. How to read the signals
Radiotherapy plus Concomitant and Adjuvant Temozolomide for Glioblastoma
New England Journal of Medicine · 2005 · Q1 · SJR 18.00 · FWCI 161.99 · 21,799 citations · Open access
Adding temozolomide to radiotherapy significantly improved overall survival for glioblastoma patients, extending median survival by 2.5 months (14.6 vs. 12.1 months) and doubling the 2-year survival rate (26.5% vs. 10.4%).
The 2021 WHO Classification of Tumors of the Central Nervous System: a summary
Neuro-Oncology · 2021 · Q1 · SJR 5.00 · FWCI 952.36 · 11,963 citations · Open access
The 2021 fifth edition of the WHO Classification of Tumors of the CNS introduces major changes, significantly advancing the role of molecular diagnostics alongside traditional histology and immunohistochemistry.
Sox9 Modulates Proliferation and Expression of Osteogenic Markers of Adipose-Derived Stem Cells (ASC)
Cellular Physiology and Biochemistry · 2013 · Q3 · FWCI 176.15 · 4,662 citations · Open access
Sox9 is a crucial transcription factor that promotes proliferation and delays osteogenic differentiation in adipose-derived stem cells (ASCs), potentially explaining why ASCs proliferate faster than bone marrow-derived stem cells (BMSCs).
Comprehensive, Integrative Genomic Analysis of Diffuse Lower-Grade Gliomas
New England Journal of Medicine · 2015 · Q1 · SJR 18.00 · FWCI 142.72 · 3,250 citations · Open access
Integrating multiple genomic data types reveals three distinct molecular subtypes of lower-grade gliomas that are more accurate predictors of patient outcomes than traditional histology.
A Randomized Trial of Bevacizumab for Newly Diagnosed Glioblastoma
New England Journal of Medicine · 2014 · Q1 · SJR 18.00 · FWCI 134.89 · 2,804 citations · Open access
Adding bevacizumab to standard chemotherapy and radiotherapy for newly diagnosed glioblastoma did not improve overall survival, despite prolonging progression-free survival.
CBTRUS Statistical Report: Primary Brain and Other Central Nervous System Tumors Diagnosed in the United States in 2012–2016
Neuro-Oncology · 2019 · Q1 · SJR 5.00 · FWCI 168.64 · 2,647 citations · Open access
The latest US population-based data reveals an average annual incidence rate of 23.41 per 100,000 for all primary brain and CNS tumors (malignant and non-malignant) between 2012-2016.
Effect of Tumor-Treating Fields Plus Maintenance Temozolomide vs Maintenance Temozolomide Alone on Survival in Patients With Glioblastoma
JAMA · 2017 · Q1 · SJR 5.00 · FWCI 77.87 · 2,618 citations · Open access
Adding Tumor-Treating Fields (TTFields) to maintenance temozolomide chemotherapy significantly improved both progression-free survival (6.7 vs. 4.0 months) and overall survival (20.9 vs. 16.0 months) in glioblastoma patients.
CBTRUS Statistical Report: Primary Brain and Other Central Nervous System Tumors Diagnosed in the United States in 2014–2018
Neuro-Oncology · 2021 · Q1 · SJR 5.00 · FWCI 219.57 · 2,578 citations · Open access
This report provides the most comprehensive population-based data on primary brain and CNS tumors in the US, including the first distribution of molecular markers for selected tumor types.
Bevacizumab plus Radiotherapy–Temozolomide for Newly Diagnosed Glioblastoma
New England Journal of Medicine · 2014 · Q1 · SJR 18.00 · FWCI 129.46 · 2,513 citations · Open access
Adding bevacizumab to standard radiotherapy and temozolomide for newly diagnosed glioblastoma significantly extended progression-free survival by over 4 months, but did not improve overall survival.
Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy
New England Journal of Medicine · 2017 · Q1 · SJR 18.00 · FWCI 101.39 · 2,358 citations · Open access
A single intravenous gene therapy infusion significantly improved survival and motor function in infants with Spinal Muscular Atrophy Type 1 (SMA1), with all treated patients alive and event-free at 20 months compared to 8% survival in historical cohorts.
Glioblastoma and Other Malignant Gliomas
JAMA · 2013 · Q1 · SJR 5.00 · FWCI 57.88 · 2,314 citations
Glioblastoma remains a challenging cancer to treat, with current standard therapy (radiotherapy plus temozolomide) doubling the 2-year survival rate to 27%, though the overall prognosis is still poor.
Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy
New England Journal of Medicine · 2017 · Q1 · SJR 18.00 · FWCI 98.93 · 2,299 citations · Open access
In infants with spinal muscular atrophy, nusinersen treatment significantly improved motor function and survival compared to a sham control, with 51% achieving motor milestones versus 0% in the control group.
The epidemiology of glioma in adults: a "state of the science" review
Neuro-Oncology · 2014 · Q1 · SJR 5.00 · FWCI 42.96 · 2,292 citations · Open access
Gliomas are the most common primary brain tumors, with glioblastoma having a poor 5-year survival rate of around 5%. Recent genomic analyses have identified key biomarkers like MGMT methylation and IDH mutations that predict improved survival.
Targeting BTK with Ibrutinib in Relapsed Chronic Lymphocytic Leukemia
New England Journal of Medicine · 2013 · Q1 · SJR 18.00 · FWCI 118.56 · 2,259 citations · Open access
Ibrutinib, a novel oral BTK inhibitor, demonstrated a 71% overall response rate in patients with relapsed or refractory chronic lymphocytic leukemia (CLL), regardless of high-risk genetic factors.
CBTRUS Statistical Report: Primary Brain and Other Central Nervous System Tumors Diagnosed in the United States in 2011–2015
Neuro-Oncology · 2018 · Q1 · SJR 5.00 · FWCI 132.98 · 2,223 citations · Open access
This report details the incidence of primary brain and central nervous system (CNS) tumors in the United States from 2011 to 2015, with a specific mention of prostate tumors in males.
A Double-Blind, Placebo-Controlled Trial of Ruxolitinib for Myelofibrosis
New England Journal of Medicine · 2012 · Q1 · SJR 18.00 · FWCI 77.44 · 2,069 citations · Open access
Ruxolitinib significantly reduced spleen size by at least 35% in 41.9% of myelofibrosis patients compared to 0.7% on placebo, and improved overall survival.
Management of glioblastoma: State of the art and future directions
CA A Cancer Journal for Clinicians · 2020 · Q1 · SJR 104.00 · FWCI 128.93 · 2,053 citations · Open access
Glioblastoma, the most common primary brain tumor, has a poor prognosis with standard treatment yielding median survival under 2 years.
Mesenchymal stem cell perspective: cell biology to clinical progress
npj Regenerative Medicine · 2019 · Q1 · SJR 1.00 · FWCI 110.29 · 2,028 citations · Open access
Mesenchymal stem cells (MSCs), first described 30 years ago, are multipotent cells with broad anti-inflammatory and immune-modulatory properties, currently under investigation in over 950 clinical trials.
Glioma Groups Based on 1p/19q,IDH, andTERTPromoter Mutations in Tumors
New England Journal of Medicine · 2015 · Q1 · SJR 18.00 · FWCI 89.12 · 1,988 citations · Open access
Gliomas can be classified into five distinct molecular groups based on three key genetic alterations: TERT promoter mutations, IDH mutations, and 1p/19q codeletion. These groups exhibit significant differences in age at diagnosis, overall survival, and associations with inherited genetic predispositions.
CBTRUS Statistical Report: Primary Brain and Other Central Nervous System Tumors Diagnosed in the United States in 2013–2017
Neuro-Oncology · 2020 · Q1 · SJR 5.00 · FWCI 145.55 · 1,981 citations · Open access
In the US, the average annual incidence rate for all primary brain and CNS tumors (malignant and non-malignant) was 23.79 per 100,000 population between 2013-2017, with glioblastoma and meningioma being the most common malignant and non-malignant types, respectively.
Recently added
Post-therapy imaging of adult brain tumours: patterns, pitfalls, and practical framework
Insights into Imaging · 2026 · Q1 · SJR 1.00
A new framework integrates imaging timing, morphology, and clinical context to distinguish true tumor progression from treatment effects like pseudoprogression and radiation necrosis in adult brain tumors.
Dynamic fate of beige adipocytes in fat grafting and inflammatory regulation
Communications Biology · 2026 · Q1 · SJR 1.00
Beige adipocytes, generated during fat grafting, exhibit higher metabolic activity and apoptosis but can revert to white adipocytes, suggesting browning is an adaptive but costly response that could be modulated to improve graft survival.
Beyond the blood-brain barrier: humanised mice, the missing link in glioblastoma research
Oncogene · 2026 · Q1 · SJR 2.00
Humanised mouse models accurately replicate human glioblastoma (GBM) by preserving crucial blood-brain barriers and recapitulating immune-tumor microenvironment interactions, offering a more translatable preclinical platform than conventional animal or ex vivo models.
Global incidence of chronic lymphocytic leukemia: A systematic review and meta-analysis
Cancer Epidemiology · 2026 · Q2 · SJR 1.00
The global age-standardised incidence rate of chronic lymphocytic leukemia (CLL) is 1.37 per 100,000 person-years, with significant regional variations, notably higher rates in North America and lower rates in Asia and Africa.
Prekallikrein: the catalytic crossroads of inflammation and thrombosis
Current Opinion in Hematology · 2026 · Q1 · SJR 1.00
Plasma prekallikrein, when activated to kallikrein, links coagulation, inflammation, and vascular biology, emerging as a therapeutic target for thromboinflammation with minimal impact on hemostasis.
Emerging role of targeted therapy in drug-resistant epilepsy in patients with glioma
Current Opinion in Oncology · 2026 · Q2
Targeted therapies, particularly IDH1/2 inhibition with vorasidenib, show promise in reducing seizure frequency in glioma patients, with the INDIGO trial reporting a 0.36 rate ratio for on-treatment seizures vs. placebo.
Receptor tyrosine kinase targeted therapies in glioblastoma: a systematic review
Frontiers in Medicine · 2026 · Q1
A systematic review of 135 studies (9,029 patients) found no consistent evidence that receptor tyrosine kinase (RTK)-directed therapies improve survival in glioblastoma, with only 4.4% of studies showing statistically significant survival benefit.
CNS distribution and preclinical activity of the PI3K/AKT inhibitors inavolisib and ipatasertib in pediatric-type diffuse high-grade gliomas
Cancer Chemotherapy and Pharmacology · 2026 · Q2
The PI3K inhibitor inavolisib achieved therapeutic concentrations in the CNS and extended survival in preclinical models of pediatric-type diffuse high-grade gliomas (pHGG) with PIK3CA mutations, while the AKT inhibitor ipatasertib did not show significant in vivo efficacy.
Journals in this field
The journals that publish most of this field’s papers. Quartile (Q1–Q4), SJR and h-index are from SCImago Journal Rank; “in this field” is how many of the journal’s pooled papers belong here. What is a Q1 journal? · What is the h-index?
| Journal | Quartile | SJR | h-index | In this field | Summaries |
|---|---|---|---|---|---|
| New England Journal of Medicine | Q1 | 18.00 | 1275 | 23 | 376 |
| Neuro-Oncology | Q1 | 5.00 | 189 | 10 | 12 |
| JAMA | Q1 | 5.00 | 818 | 6 | 114 |
| Journal of Clinical Oncology | Q1 | 4.00 | 666 | 2 | 38 |
| Proceedings of the National Academy of Sciences of the United States of America | Q1 | 3.00 | 929 | 2 | 110 |
| Scientific Reports | Q1 | — | 382 | 2 | 170 |
| Ca-A Cancer Journal for Clinicians | Q1 | 104.00 | 236 | 1 | 39 |
| Nature | Q1 | 19.00 | 1495 | 1 | 48 |
Every journal in Genetics (Medicine) (Q1–Q4) →
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